Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets C0342643
A metabolic bone disorder causing weak, soft bones due to the body's inability to properly use phosphate and vitamin D. It is inherited in an autosomal recessive manner. Treatment involves phosphate and active vitamin D supplementation.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Bone pain
(musculoskeletal)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Skeletal deformities
(musculoskeletal)Dental abnormalities
(dental)Hearing loss
(ENT)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Phosphate Supplementation
Oral phosphate salts to correct hypophosphatemia and promote bone mineralization. Typically combined with active vitamin D metabolites to enhance intestinal absorption and prevent secondary hyperparathyroidism.
Active Vitamin D Analogs
Calcitriol or alfacalcidol administration to improve calcium and phosphate homeostasis. Essential adjunct therapy to phosphate supplementation to optimize bone health outcomes.
Additional treatment options
Phosphate-Rich Food Sources
Incorporation of dietary sources high in phosphate such as dairy products, fish, nuts, and legumes to complement medical therapy. Nutritional counseling helps optimize phosphate intake.
dietaryMusculoskeletal Support and Rehabilitation
Targeted physical therapy program focusing on improving muscle strength, joint mobility, and weight-bearing activities to support bone development and prevent deformities.
physical_therapyBiochemical and Radiographic Monitoring
Regular assessment of serum minerals, renal function, and growth parameters combined with periodic imaging to evaluate treatment response and bone architecture.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets C0342643?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014.
Baroncelli GI, Mora S. Genetic disorders of phosphate homeostasis: from mice to humans. Bone. 2019.
Carpenter TO, Imel EA, Holm IA, et al. A randomized, double-blind, placebo-controlled trial of burosumab in X-linked hypophosphatemia. N Engl J Med. 2018.
Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphatemia. Nat Rev Nephrol. 2019.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets C0342643. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy